RECRUITING

A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

The main purpose of this study is to evaluate the long-term safety of PTC923 in participants with phenylketonuria, and to evaluate the changes from baseline in dietary phenylalanine (Phe)/protein consumption.

Official Title

A Phase 3 Open-Label Study of PTC923 (Sepiapterin) in Phenylketonuria

Quick Facts

Study Start:2022-02-14

Study Completion:2026-04-30

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT05166161

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
* Clinical diagnosis of PKU with hyperphenylalaninemia (HPA) documented by past medical history of at least 2 blood Phe measurements ≥600 μmol/L. * Women of childbearing potential must have a negative pregnancy test at screening and agree to abstinence or the use of at least one highly effective form of contraception for the duration of the study, and for up to 90 days after the last dose of the study drug. * Males who are sexually active with women of childbearing potential who have not had a vasectomy must agree to use a barrier method of birth control during the study and for up to 90 days after the last dose of study drug. Males must also refrain from sperm donations during this time period. * Willing to continue current diet unchanged while participating in the study (unless specifically instructed to change diet during the study by the investigator).	* Inability to tolerate oral medication. * A female who is pregnant or breastfeeding, or considering pregnancy. * Serious neuropsychiatric illness (for example, major depression) not currently under medical control, that in the opinion of the investigator or sponsor, would interfere with the participant's ability to participate in the study or increase the risk of participation for that participant. * Past medical history and/or evidence of renal impairment and/or condition including moderate/severe renal insufficiency (glomerular filtration rate \[GFR\] \<60 milliliters \[mL\]/minute \[min\] min as estimated most recently during qualifying participation in a feeder study) and/or under care of a nephrologist. * Any other condition that in the opinion of the investigator or sponsor, would interfere with the participant's ability to participate in the study or increase the risk of participation for that participant. * Requirement for concomitant treatment with any drug known to inhibit folate synthesis (for example, methotrexate). * Concomitant treatment with tetrahydrobiopterin (BH4) supplementation (for example, sapropterin dihydrochloride, KUVAN) or pegvaliase-pqpz (PALYNZIQ). * Gastrointestinal disease (such as irritable bowel syndrome, inflammatory bowel disease, chronic gastritis, and peptic ulcer disease, etc) that could affect the absorption of study drug. * History of gastric surgery, including Roux-en-Y gastric bypass surgery or an antrectomy with vagotomy, or gastrectomy. * History of allergies or adverse reactions to synthetic BH4 or sepiapterin. * Any clinically significant laboratory abnormality as determined by the investigator. * Any abnormal physical examination and/or laboratory findings indicative of signs or symptoms of renal disease, including calculated GFR \<60 milliliters (mL)/minute/1.73 square meter (m\^2).

Inclusion Criteria

Exclusion Criteria

* Clinical diagnosis of PKU with hyperphenylalaninemia (HPA) documented by past medical history of at least 2 blood Phe measurements ≥600 μmol/L.
* Women of childbearing potential must have a negative pregnancy test at screening and agree to abstinence or the use of at least one highly effective form of contraception for the duration of the study, and for up to 90 days after the last dose of the study drug.
* Males who are sexually active with women of childbearing potential who have not had a vasectomy must agree to use a barrier method of birth control during the study and for up to 90 days after the last dose of study drug. Males must also refrain from sperm donations during this time period.
* Willing to continue current diet unchanged while participating in the study (unless specifically instructed to change diet during the study by the investigator).

* Inability to tolerate oral medication.
* A female who is pregnant or breastfeeding, or considering pregnancy.
* Serious neuropsychiatric illness (for example, major depression) not currently under medical control, that in the opinion of the investigator or sponsor, would interfere with the participant's ability to participate in the study or increase the risk of participation for that participant.
* Past medical history and/or evidence of renal impairment and/or condition including moderate/severe renal insufficiency (glomerular filtration rate \[GFR\] \<60 milliliters \[mL\]/minute \[min\] min as estimated most recently during qualifying participation in a feeder study) and/or under care of a nephrologist.
* Any other condition that in the opinion of the investigator or sponsor, would interfere with the participant's ability to participate in the study or increase the risk of participation for that participant.
* Requirement for concomitant treatment with any drug known to inhibit folate synthesis (for example, methotrexate).
* Concomitant treatment with tetrahydrobiopterin (BH4) supplementation (for example, sapropterin dihydrochloride, KUVAN) or pegvaliase-pqpz (PALYNZIQ).
* Gastrointestinal disease (such as irritable bowel syndrome, inflammatory bowel disease, chronic gastritis, and peptic ulcer disease, etc) that could affect the absorption of study drug.
* History of gastric surgery, including Roux-en-Y gastric bypass surgery or an antrectomy with vagotomy, or gastrectomy.
* History of allergies or adverse reactions to synthetic BH4 or sepiapterin.
* Any clinically significant laboratory abnormality as determined by the investigator.
* Any abnormal physical examination and/or laboratory findings indicative of signs or symptoms of renal disease, including calculated GFR \<60 milliliters (mL)/minute/1.73 square meter (m\^2).

Contacts and Locations

Study Contact

Patient Advocacy

CONTACT

1-866-562-4620

medinfo@ptcbio.com

Study Locations (Sites)

University of Colorado and the Children's Hospital CO

Aurora, Colorado, 80045

United States

UF College of Medicine, Department of Pediatrics Division of Genetics and Metabolism

Gainesville, Florida, 32610

United States

Indiana University School of Medicine

Indianapolis, Indiana, 46202

United States

Boston Children's Hospital

Boston, Massachusetts, 02115

United States

Icahn School of Medicine at Mount Sinai (ISMMS)

New York, New York, 10009

United States

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224

United States

University of Utah, Division of Medical Genetics (pediatric and adult clinic)

Salt Lake City, Utah, 84108

United States

Collaborators and Investigators

Sponsor: PTC Therapeutics

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2022-02-14

Study Completion Date2026-04-30

Study Record Updates

Study Start Date2022-02-14

Study Completion Date2026-04-30

Terms related to this study

Additional Relevant MeSH Terms

Phenylketonuria